monarch-initiative / biolink-api

API for linked biological knowledge
https://api.monarchinitiative.org/api/
BSD 3-Clause "New" or "Revised" License
63 stars 25 forks source link

mart routes for exomiser #106

Open cmungall opened 6 years ago

cmungall commented 6 years ago

From Damian:

(1) Disease IDs, terms and HPO annotations (2) Mouse Strain ID, Gene ID, Gene symbol and MP annotations (I also need the IMPC annotations to be in there and only single gene records from MGI but I can probably parse those out) (3) Fish Strain ID, Gene ID, Gene symbol and ZP annotations (4) Ontology IDs and terms for HP, MP and ZP (5) Ontology mappings for HP-HP, HP-MP and HP-ZP including the simJ, IC and LCS of each pair (6) Human-mouse orthologs including MGI gene ID, MGI symbol, HGNC symbol, EntrezGene ID and same for Human-fish orthologs

damiansm commented 6 years ago

An update: I managed to do some playing with the mart route and was doing the trick for the disease stuff for (1). mart links for Strain->gene and Strain->phenotype for mouse, fish and all species would definitely solve (2) and (3) as you say. (4) I can definitely solve from a biolink query or one of the existing downloads e.g. all.owl or monarch-merged.owl. For (5) if the owlsim.cache download file just had the simJ as well would be job done from our end. Is it not there for a reason or just because you don't use simJ for any of the Monarch calculations? For (6) I just need the ortholog relationships - I can fill in the rest such as symbols. Sure it must be available from one of the biolink calls but I am just being blind